title: Common mutations in Cuban cystic fibrosis patients.
abstract: So far, more than 1500 mutations have been reported in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Mutational spectrum varies in accordance with geographic and/or ethnic origin. In this study, we have analyzed seven common CF mutations (p.F508del, p.G542X, p.R1162X, p.N1303K, p.R334W, p.R553X and c.3120+1G>A) taking into account the ethnic origin of the Cuban population which is mainly influenced by Spanish and sub-Sahara African contribution. All but p.N1303K have been detected in our patients, the p.F508del being the most prevalent (37.9%). Overall, six mutations showed frequencies above 1% accounting for 55.5% of the Cuban CF alleles.
authors.affiliation: Centro Nacional de Genética Médica, ISCMH, Cuba. tcollazo@infomed.sld.cu
authors.forename: Teresa
authors.initials: T
authors.lastname: Collazo
authors.forename: Ana María
authors.initials: AM
authors.lastname: Bofill
authors.forename: Yulia
authors.initials: Y
authors.lastname: Clark
authors.forename: Yadira
authors.initials: Y
authors.lastname: Hernández
authors.forename: Manuel
authors.initials: M
authors.lastname: Gómez
authors.forename: Fidel
authors.initials: F
authors.lastname: Rodríguez
authors.forename: María D
authors.initials: MD
authors.lastname: Ramos
authors.forename: Javier
authors.initials: J
authors.lastname: Giménez
authors.forename: Teresa
authors.initials: T
authors.lastname: Casals
authors.forename: Manuel
authors.initials: M
authors.lastname: Rojo
mesh_terms: D003462:Cuba; D003550:Cystic Fibrosis / Q000235:genetics*; D004252:DNA Mutational Analysis; D005787:Gene Frequency; D014644:Genetic Variation; D005828:Genetics, Population; D006801:Humans; D009154:Mutation / Q000235:genetics*